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Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.
Hasegawa, Yuiko; Nishi, Eriko; Mishima, Yuko; Sakaguchi, Tomohiro; Sekiguchi, Futoshi; Miyake, Noriko; Kojima, Karin; Osaka, Hitoshi; Matsumoto, Naomichi; Okamoto, Nobuhiko.
Afiliación
  • Hasegawa Y; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan. Electronic address: yuhase@wch.opho.jp.
  • Nishi E; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
  • Mishima Y; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
  • Sakaguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Kojima K; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
  • Osaka H; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Brain Dev ; 43(10): 1023-1028, 2021 Nov.
Article en En | MEDLINE | ID: mdl-34481663
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Descarboxilasas de Aminoácido-L-Aromático / Discapacidades del Desarrollo / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Etiology_studies Límite: Child / Female / Humans Idioma: En Revista: Brain Dev Año: 2021 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Descarboxilasas de Aminoácido-L-Aromático / Discapacidades del Desarrollo / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Etiology_studies Límite: Child / Female / Humans Idioma: En Revista: Brain Dev Año: 2021 Tipo del documento: Article